Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies

Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements

(2022) Rachel Michaelson-Cohen et al.   MOLECULAR GENETICS AND GENOMICS

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

(2022) Viola Alesi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping

(2022) Shuo Zhang et al.   JOURNAL OF MEDICAL GENETICS

Mechanisms of structural chromosomal rearrangement formation

(2022) Bruna Burssed et al.   Molecular Cytogenetics

Identification of a familial complex chromosomal rearrangement by optical genome mapping

(2022) Yang Yang et al.   Molecular Cytogenetics

Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome

(2021) Ching-Wan Lam et al.   JOURNAL OF HUMAN GENETICS

Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses

(2021) Nikhil Shri Sahajpal et al.   Genes

Optical genome mapping enables constitutional chromosomal aberration detection

(2021) Tuomo Mantere et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analytical and clinical performance of chromosomal microarrays compared with FISH panel and conventional karyotyping in patients with chronic lymphocytic leukemia

(2021) Zhenya Tang et al.   LEUKEMIA RESEARCH

A comprehensive and universal approach for embryo testing in patients with different genetic disorders

(2021) Shuo Zhang et al.   Clinical and Translational Medicine

Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements

(2020) Jian Ou et al.   Reproductive Biology and Endocrinology

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

(2019) Jesper Eisfeldt et al.   PLoS Genetics

Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions

(2019) Shuo Zhang et al.   JOURNAL OF MEDICAL GENETICS

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

(2018) Lusine Nazaryan-Petersen et al.   PLoS Genetics

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance

(2016) Soto Romuald Kiando et al.   PLoS Genetics

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

(2016) Bushra Irum et al.   PLoS One

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

What Is a Complex Chromosome Rearrangement?

(2013) Kamlesh Madan   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

(2013) Tuva Barøy et al.   Orphanet Journal of Rare Diseases

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

(2013) Daniela Di Benedetto et al.   Molecular Cytogenetics

Balanced complex chromosome rearrangements: Reproductive aspects. A review

(2012) Kamlesh Madan   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

(2012) Patrícia BS Celestino-Soper et al.   Molecular Cytogenetics

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

(2011) Beata A Nowakowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Complex chromosomal rearrangements: origin and meiotic behavior

(2011) F. Pellestor et al.   HUMAN REPRODUCTION UPDATE

Complex chromosome rearrangements:Report of a new case and literature review

(2010) G. S. Pai et al.   CLINICAL GENETICS

Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review

(2010) I. Salahshourifar et al.   JOURNAL OF APPLIED GENETICS

De novobalanced chromosome rearrangements in prenatal diagnosis

(2009) Daniela Giardino et al.   PRENATAL DIAGNOSIS